rs112325689 - ADAM19
Magnitude 2.2 · 2 studies on file
Reported associations
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Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD. - AMIA ... Annual Symposium proceedings. AMIA Symposium (2022) · Joo J, Himes B · PubMed 35308900
Sex-specific differences have been noted among people with chronic obstructive pulmonary disease (COPD), but whether these differences are attributable to genetic variation is poorly understood. The availability of large biobanks with deeply phenotyped subjects such as the UK Biobank enables the investigation of sex-specific genetic associations that may provide new insights into COPD risk factors. We performed sex-stratified genome-wide association studies (GWAS) of COPD (male: 12,958 cases and 95,631 controls; female: 11,311 cases and 123,714 controls) and found that while most associations were shared between sexes, several regions had sex-specific contributions, including respiratory viral infection-related loci in/near C5orf56 and PELI1. Using the newly developed R package 'snpsettest
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A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286
ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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COPD genetic risk and personalized prevention strategies High
Variant increases COPD risk approximately 1.1-fold independent of smoking; tailored prevention maximizes benefit.
discuss genetic risk status, current respiratory symptoms, and personalized management approach
Screening
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baseline spirometry and FEV1 FVC ratio measurement High
Variant is associated with reduced FEV1 FVC ratio, a key marker of lung obstruction; baseline assessment enables early detection of decline.
obtain baseline spirometry if not done; if abnormal, repeat annually or per clinical guidance